Object's details: SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Provider:Repozytorium Instytutu Biochemii i Biofizyki Polskiej Akademii Nauk

Description

Title:
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Creator:
Swiezewska, Ewa
Description:
N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of glycosylation (CDGs). We describe a new type of CDG caused by mutations in the steroid 5a-reductase type 3 (SRD5A3) gene. Patients have mental retardation and ophthalmologic and cerebellar defects. We found that SRD5A3 is necessary for the reduction of the alpha-isoprene unit of polyprenols to form dolichols, required for synthesis of dolichol-linked monosaccharides, and the oligosaccharide precursor used for N-glycosylation. The presence of residual dolichol in cells depleted for this enzyme suggests the existence of an unexpected alternative pathway for dolichol de novo biosynthesis. Our results thus suggest that SRD5A3 is likely to be the long-sought polyprenol reductase and reveal the genetic basis of one of the earliest steps in protein N-linked glycosylation.
Object availability:
free access
Date:
2010.07.23
Type:
Article;
PeerReviewed
Language:
English;
eng
Format:
application/pdf
Publisher:
Cell Press / Elsevier
Relation: http://eprints.ibb.waw.pl/41 ;10.1016/j.cell.2010.06.001
Subject:
QH301 Biology
Identifier: http://eprints.ibb.waw.pl/41/1/2010_Cell.pdf ;
Swiezewska, Ewa (2010) SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell, 142 (2). pp. 203-217.
Data provider:
Repozytorium Instytutu Biochemii i Biofizyki Polskiej Akademii Nauk

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Object's details: SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

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